Πέμπτη 26 Μαρτίου 2020


Frontal Fibrosing Alopecia shows robust Th1 and JAK3 skewing
Abstract Background Frontal Fibrosing Alopecia (FFA) is a scarring alopecia with unclear pathogenesis and a progressive course. The disease has a major impact on patients’ quality of life, lacking effective treatments to halt disease progression. Methods We profiled lesional and non‐lesional scalp biopsies collected in 2017 from FFA patients (n=12) in comparison to scalp biopsies from alopecia areata (AA) (n=8) and control (n=8) individuals to evaluate gene and protein expression...
British Journal of Dermatology
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Neurologic sequelae following radiation with and without chemotherapy for oropharyngeal cancer: Patient reported outcomes study
Abstract Background There is little data describing neurocognitive late sequelae in patients treated for oropharyngeal cancer. Methods Using PROs, scores for “numbness/tingling” and “difficulty remembering” were assessed. Wilcoxon testing was utilized to compare mean assessment scores (1‐10) between treatment subgroups. Results Four‐hundred ninety‐seven patients were evaluated and 267 (54%) received chemotherapy. The mean score for numbness/tingling for patients receiving...
Head & Neck
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Institutional experience of 200 consecutive papillary thyroid carcinoma patients in transoral robotic thyroidectomy surgeries
Abstract Background We evaluated the outcomes of patients with papillary thyroid carcinoma (PTC) who underwent transoral robotic thyroidectomy (TORT). Methods We retrospectively analyzed the perioperative outcomes of 200 patients (170 women and 30 men) with PTC who underwent TORT at a single center between March 2016 and February 2018. Results There were 182 and 13 cases of lobectomy and total thyroidectomy, respectively, with corresponding mean operative times of 200.6 ± 31.2...
Head & Neck
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Biological tumor markers (maspin, CD105, nm23‐H1) and disease relapse in laryngeal cancer: cluster analysis
Abstract Background The aim of this investigation was to see if a panel of biomarkers (maspin, CD105, and nm23‐H1) could be used to stratify patients with laryngeal squamous cell carcinoma (LSCC) in homogeneous disease recurrence risk clusters. Methods Cluster analysis was used to classify 89 patients based on their immunohistochemical expression of nm23‐H1, CD105, and maspin. Results Our analysis identified seven homogeneous clusters: the LSCC recurrence rate was lowest...
Head & Neck
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Clinical management of emerging sinonasal malignancies
Abstract Several emerging sinonasal malignancies have recently been described in the pathology literature. Although not all distinctly classified by the World Health Organization, these rare tumors present a management challenge to surgeons and oncologists. While prior studies have summarized histologic details, a clinically focused review is currently lacking in the literature. This review describes the presentation, histopathology, imaging, treatment, and prognosis of newly described or recently...
Head & Neck
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Bi‐institutional experience of transoral endoscopic thyroidectomy: Challenges and outcomes
Abstract Background Transoral endoscopic thyroidectomy vestibular approach (TOETVA) is a novel remote‐access endoscopic approach. In this study, we compared the surgical outcomes of TOETVA with those of conventional transcervical approach (TCA) in two tertiary hospitals. Methods A total of 82 patients were done by TOETVA and 233 patients received TCA between January 2018 and April 2019. Propensity score matching was used to reduce selection bias. Results Operation time...
Head & Neck
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Neoadjuvant chemotherapy followed by surgery for HPV‐associated locoregionally advanced oropharynx cancer
Abstract Background Neoadjuvant chemotherapy followed by surgery (NAC + S), a paradigm based on systemic escalation coupled with surgery‐based de‐escalation, is under investigation for treatment of HPV‐associated oropharynx cancer (OPC). Methods Prospective cohort of patients with non‐metastatic, p16 positive OPC enrolled in a clinical trial of NAC + S was compared to a historic cohort of patients undergoing concurrent chemoradiation (CCRT) to compare disease‐free survival (DFS)....
Head & Neck
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Loss of S100A14 expression at the tumor‐invading front correlates with poor differentiation and worse prognosis in oral squamous cell carcinoma
Abstract Background We previously showed a tumor‐suppressive function of S100A14 in oral squamous cell carcinoma (OSCC). This study aimed to examine the prognostic significance and differentiation‐related function of S100A14 in OSCC. Methods S100A14 expression was examined in 170 OSCCs from Norwegian and Nepalese populations using immunohistochemistry. Pro‐differentiation function was investigated by overexpressing and silencing S100A14 expression in OSCC‐derived cells. External...
Head & Neck
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Optimizing number of cycles of induction chemotherapy for patients with nasopharyngeal carcinoma: Retrospective survival analysis
Abstract Background Induction chemotherapy followed by concurrent chemoradiotherapy is one of the standards of care for patients with nasopharyngeal carcinoma, but the optimal number of induction cycles is unclear. Here we compared survival data from patients treated with 2 to 4 cycles. Methods Patients with nasopharyngeal carcinoma at West China Hospital of Sichuan University between January 2009 and December 2015 were retrospectively analyzed. Results Six hundred and...
Head & Neck
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Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia
BackgroundPrimary ciliary dyskinesia (PCD) is a rare genetic disorder resulting in abnormal ciliary motility/structure, extremely heterogeneous at genetic and ultrastructural levels. We aimed, in light of extensive genotyping, to identify specific and quantitative ciliary beating anomalies, according to the ultrastructural phenotype. MethodsWe prospectively included 75 patients with PCD exhibiting the main five ultrastructural phenotypes (n=15/group), screened all corresponding PCD genes and measured...
Journal of Medical Genetics current issue
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Risk of metastatic pheochromocytoma and paraganglioma in SDHx mutation carriers: a systematic review and updated meta-analysis
BackgroundPheochromocytoma and paraganglioma (PPGL) are tumours that arise from chromaffin cells. Some genetic mutations influence PPGL, among which, those in genes encoding subunits of succinate dehydrogenase (SDHA, SDHB, SDHC and SDHD) and assembly factor (SDHAF2) are the most relevant. However, the risk of metastasis posed by these mutations is not reported except for SDHB and SDHD mutations. This study aimed to update the metastatic risks, considering prevalence and incidence of each SDHx mutation,...
Journal of Medical Genetics current issue
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Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex
Background3C/Ritscher-Schinzel syndrome is characterised by congenital cranio-cerebello-cardiac dysplasia, where CCDC22 and WASHC5 are accepted as the causative genes. In combination with the retromer or retriever complex, these genes play a role in endosomal membrane protein recycling. We aimed to identify the gene abnormality responsible for the pathogenicity in siblings with a 3C/Ritscher-Schinzel-like syndrome, displaying cranio-cerebello-cardiac dysplasia, coloboma, microphthalmia, chondrodysplasia...
Journal of Medical Genetics current issue
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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
IntroductionLynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are hereditary cancer syndromes associated with mismatch repair (MMR) deficiency. Tumours show microsatellite instability (MSI), also reported at low levels in non-neoplastic tissues. Our aim was to evaluate the performance of high-sensitivity MSI (hs-MSI) assessment for the identification of LS and CMMRD in non-neoplastic tissues. Materials and methodsBlood DNA samples from 131 individuals were grouped into three...
Journal of Medical Genetics current issue
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FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy
BackgroundArrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that affects predominantly the right ventricle and is part of the spectrum of arrythmogenic cardiomyopathies (ACMs). ARVC is a genetic condition; however, a pathogenic gene variant is found in only half of patients. ObjectiveFilamin C gene truncations (FLNCtv) have recently been identified in dilated cardiomyopathy with ventricular arrhythmia and sudden cardiac death, a phenotype partially overlapping with...
Journal of Medical Genetics current issue
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De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy
BackgroundCharcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. Biallelic variants in SLC12A6 have been associated with autosomal-recessive hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC). We identified heterozygous de novo variants in SLC12A6 in three unrelated patients with intermediate CMT. MethodsWe evaluated the clinical reports and electrophysiological data of three patients carrying...
Journal of Medical Genetics current issue
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Is there a learning curve in static computer-assisted implant surgery? A prospective clinical study
Publication date: Available online 23 March 2020Source: International Journal of Oral and Maxillofacial SurgeryAuthor(s): M. Cassetta, F. Altieri, M. Giansanti, M. Bellardini, G. Brandetti, L. Piccoli
ScienceDirect Publication: International Journal of Oral and Maxillofacial Surgery
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Ocular and adnexal anomalies in craniofacial microsomia: a systematic review
Publication date: Available online 23 March 2020Source: International Journal of Oral and Maxillofacial SurgeryAuthor(s): W. Rooijers, C.J.J.M. Caron, S.E. Loudon, B.L. Padwa, D.J. Dunaway, C.R. Forrest, M.J. Koudstaal
ScienceDirect Publication: International Journal of Oral and Maxillofacial Surgery
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Modified arthroscopic anterior myotomy for internal derangement of the temporomandibular joint: clinical and radiological results
Publication date: Available online 23 March 2020Source: International Journal of Oral and Maxillofacial SurgeryAuthor(s): M.F. Muñoz-Guerra, F.J. Rodríguez-Campo, V. Escorial-Hernández, P.J. Brabyn, M. Fernández-Domínguez, L. Naval-Gías
ScienceDirect Publication: International Journal of Oral and Maxillofacial Surgery
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Endophytic Bacteria Associated with Medicinal Plant Vernonia anthelmintica : Diversity and Characterization
Abstract Increasing evidence shows that endophytic bacteria living inside plant tissue may possess similar biological activity and produce similar metabolites to their hosts. This study aimed to determine the diversity of endophytic bacteria associated with Vernonia anthelmintica and to evaluate their biological activity. The bacteria were isolated from the plant tissue using culture-dependent techniques. Comparison of the 16S rRNA gene sequences of endophytic bacteria isolated...
Latest Results
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JPM, Vol. 10, Pages 19: Utilization of Hydroxyl-Methyl Butyrate, Leucine, Glutamine and Arginine Supplementation in Nutritional Management of Sarcopenia—Implications and Clinical Considerations for Type 2 Diabetes Mellitus Risk Modulation
JPM, Vol. 10, Pages 19: Utilization of Hydroxyl-Methyl Butyrate, Leucine, Glutamine and Arginine Supplementation in Nutritional Management of Sarcopenia—Implications and Clinical Considerations for Type 2 Diabetes Mellitus Risk Modulation Journal of Personalized Medicine doi: 10.3390/jpm10010019 Authors: Adeline Maykish Angelos K. Sikalidis While onset characteristics may vary, sarcopenia gradually develops over time as a result of the aging process, leading to muscle loss, disturbance...
Journal of Personalized Medicine
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Sinonasal Squamous Cell Carcinoma: Etiology, Pathogenesis, and the Role of Human Papilloma Virus
Abstract Purpose of Review Sinonasal squamous cell carcinoma (SNSCC) is a rare disease with considerable histologic diversity. Currently, there is a poor understanding of the etiology and pathogenesis of SNSCC. Here, we review recent literature to summarize what is known regarding (1) the etiology of SNSCC, (2) the role of Human Papilloma Virus (HPV) in SNSCC, and (2) the molecular underpinnings of SNSCC. ...
Current Otorhinolaryngology Reports
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Thymic epithelial tumors: from biology to treatment
Publication date: Available online 23 March 2020Source: Cancer Treatment ReviewsAuthor(s): Fabio Conforti, Laura Pala, Giuseppe Giaccone, Tommaso De Pas
Cancer Treatment Reviews
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The role of Tumor-Associated Macrophages in Gastric Cancer development and their potential as a therapeutic target
Publication date: Available online 23 March 2020Source: Cancer Treatment ReviewsAuthor(s): V. Gambardella, J. Castillo, N. Tarazona, F. Gimeno-Valiente, C. Martínez-Ciarpaglini, M. Cabeza, S. Roselló, D. Roda, M. Huerta, A. Cervantes, T. Fleitas
Cancer Treatment Reviews
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Inhibition of suppressor of cytokine signaling 1 mediates the profibrotic effect of TWEAK/Fn14 signaling on kidney cells
Publication date: Available online 23 March 2020Source: Cellular SignallingAuthor(s): Jingyun Chen, Fangyan Jia, Kaixuan Ren, Mai Luo, Xiaoyun Min, Ping Wang, Shengxiang Xiao, Yumin Xia
Cellular Signalling
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Revisit the effects of fucoidan on gut microbiota in health and disease: What do we know and what do we need to know?
Publication date: Available online 23 March 2020Source: Bioactive Carbohydrates and Dietary FibreAuthor(s): Qingsen Shang
ScienceDirect Publication: Bioactive Carbohydrates and Dietary Fibre
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Cosmetics, Vol. 7, Pages 19: A Cosmetically Acceptable Dye Product to Improve Detection of Head Louse Eggs and Nits
Cosmetics, Vol. 7, Pages 19: A Cosmetically Acceptable Dye Product to Improve Detection of Head Louse Eggs and Nits Cosmetics doi: 10.3390/cosmetics7010019 Authors: Elizabeth R Brunton Mark N Burgess Ian P Whelan Ian F Burgess Removing head louse eggshells and nits after a successful pediculicide treatment is often made more difficult because it is not easy to see them all amongst the hairs. Therefore, a treatment that makes louse eggs more visible potentially makes...
Cosmetics
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Central Odontogenic Fibroma with Giant Cell Granuloma-Like Lesion: A Report of an Additional Case and Review of Literature
Abstract Central odontogenic fibroma is a rare benign odontogenic tumor that relies on clinical–radiographic–histological correlation to reach its diagnosis, especially its rare variants. Of these rare types is the coexistence of giant cell granuloma-like lesion, with the characteristic odontogenic epithelial rests. The presented case is a 33 years old female complaining of asymptomatic mandibular bony swelling. Radiographically, the lesion is unilocular radiolucent, without root...
Latest Results for Head and Neck Pathology
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Success Factors for and Barriers to Integration of Electronic Mental Health Screening in Primary Care
Currently, only a third of primary care providers screen for substance use, which is a growing epidemic. This quality improvement study aimed to improve the screening process by integrating the Drug Abuse Screening Test without information systems support into the electronic health record to increase completed screenings and provider interventions for positive screenings in adult patients at an urban primary care clinic. Electronic drug abuse screening should include a prescreen followed by the Drug...
Computers Informatics Nursing - Published Ahead-of-Print
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Optimization of Nursing-Specific Flu Alerts
Clinical decision support interventions, such as alerts and reminders, can improve clinician compliance with practice guidelines and patient outcomes. Alerts that trigger at inappropriate times are often dismissed by clinicians, reducing desired actions rather than increasing them. A set of nursing-specific alerts related to influenza screening and vaccination were optimized so that they would “trigger” less often but function adequately to maintain institutional flu vaccination compliance. We analyzed...
Computers Informatics Nursing - Published Ahead-of-Print
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Constructing Inpatient Pressure Injury Prediction Models Using Machine Learning Techniques
The incidence rate of pressure injury is a critical nursing quality indicator in clinic care; consequently, factors causing pressure injury are diverse and complex. The early prevention of pressure injury and monitoring of these complex high-risk factors are critical to reduce the patients' pain, prevent further surgical treatment, avoid prolonged hospital stay, decrease the risk of wound infection, and lower associated medical costs and expenses. Although a number of risk assessment scales of pressure...
Computers Informatics Nursing - Published Ahead-of-Print
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Physiologic Significance of Epigenetic Regulation of Thyroid Hormone Target Gene Expression
Background: In previous publications, we have reported our findings demonstrating that exposure to high maternal levels of thyroid hormones (TH) has life-long effects on the wild-type (WT, without THRB mutation) progeny of mothers with resistance to thyroid hormone beta (RTHβ). The mechanism of this epigenetic effect remains unclear. Objectives: We reviewed the mechanisms involved in the epigenetic regulation of TH target genes and understand how they may explain the reduced sensitivity to TH in...
ETJ : Last 20 articles
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Moving beyond belief: A narrative review of potential biomarkers for transcutaneous vagus nerve stimulation
Abstract Transcutaneous vagus nerve stimulation (tVNS) is a non‐invasive neurostimulation technique that is currently being tested as a potential treatment for a myriad of neurological and psychiatric disorders. However, the working mechanisms underlying tVNS are poorly understood and it remains unclear whether stimulation activates the vagus nerve for every participant. Finding a biological marker of tVNS is imperative, as it can help guide research on clinical applications and can inform researchers...
Psychophysiology
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The Affordable Care Act and access to care across the cancer control continuum: A review at 10 years
Abstract Lack of health insurance coverage is strongly associated with poor cancer outcomes in the United States. The uninsured are less likely to have access to timely and effective cancer prevention, screening, diagnosis, treatment, survivorship, and end‐of‐life care than their counterparts with health insurance coverage. On March 23, 2010, the Patient Protection and Affordable Care Act (ACA) was signed into law, representing the largest change to health care delivery in the United States since...
CA: A Cancer Journal for Clinicians
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Locking Y Lateral Canthopexy as a Treatment for Dry Eye Disease Caused by Eyelid Malposition
Purpose: The signs and symptoms of dry eye disease (DED) can affect the quality of life of patients. This study analyzes whether locking Y lateral canthopexy improves patients’ quality of life and in what way it does so (based on the ocular surface disease index questionnaire) and DED signs (measured by the fluorescein breakup time, tear osmolarity, Schirmer test, and corneal staining) in patients with DED caused by a eyelid malposition or impaired blink dynamics. Methods: This was a case-control...
Ophthalmic Plastic & Reconstructive Surgery - Published Ahead-of-Print
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Change in Lower Eyelid Contour Following Ectropion Repair With Lateral Tarsal Strip
Purpose: To evaluate the change in lateral canthal angle (LCA), inferior ocular surface exposed (IOSE), lower eyelid curvature, and margin-to-reflex distance 2 in those undergoing lower eyelid ectropion repair using a lateral tarsal strip technique. Methods: This is an Institutional Review Board-approved retrospective analysis of patients undergoing lower eyelid ectropion repair. This study included all patients from 2012 to 2018 operated on by a single surgeon at the University of Texas...
Ophthalmic Plastic & Reconstructive Surgery - Published Ahead-of-Print
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Ectopic Lacrimal Gland Tissue: A Systematic Review
Purpose: To review the clinical and histopathological findings associated with ectopic lacrimal gland tissue. Methods: A systematic review of the literature on ectopic lacrimal gland tissue was performed. Studies which met clinical and histolopathological criteria for ectopic lacrimal gland tissue written in English and published in peer-reviewed journals were included. Results: Sixty-nine publications detailing 180 cases of ectopic lacrimal gland tissue were published between 1946 and...
Ophthalmic Plastic & Reconstructive Surgery - Published Ahead-of-Print
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Upper Eyelid Isolated Arterio-Venous Malformation Treated With Embolization in a Patient With Keloid-Prone Skin
Ocular adnexal aterio-venous malformations (AVMs) are rare congenital disabling anomalies, which may enlarge causing disfiguring deformity and rarely severe hemorrhage. These lesions are generally treated by preliminary endovascular embolization to shrink the arterio-venous malformation, followed by surgical gross total resection. The authors report a case of eyelid arterio-venous malformation in a 12-year-old girl, which progressively increased in size in few months. The patient complained mild...
Ophthalmic Plastic & Reconstructive Surgery - Published Ahead-of-Print
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Dermoid Cyst: Outcome Analysis in a Pediatric Referral Hospital
Purpose: To describe the management of dermoid cysts in a pediatric referral hospital. Methods: Retrospective review of 115 patients with pathological diagnosis of dermoid cyst in a pediatric referral hospital between 2003 and 2019. Results: One hundred fifteen patients, 51 (44.3%) males, and 64 (55.7%) females were retrospectively reviewed. There were fifty-one (44.3%) right eyes and 64 (55.7%) left eyes. Mean age at surgery was 39.15 months (5.6 months–16.4 years). One hundred four...
Ophthalmic Plastic & Reconstructive Surgery - Published Ahead-of-Print
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Sensitivity of cervico‐vaginal cytology in endometrial carcinoma: A systematic review and meta‐analysis
Cervico‐vaginal cytology is primarily a cervical cancer screening test. The anatomical continuity of the uterine cavity with the cervix makes the Papanicolaou (Pap) test accessible to evaluate signs of disease shed from the endometrium. Our aim was to determine the sensitivity of routine Pap test in endometrial carcinoma detection and its relationship with clinico‐pathologic factors. We performed a systematic review of studies reporting Pap test results prior to diagnosis of or surgery for endometrial...
Cancer Cytopathology
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